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Variant (rsID / SNP)

rs201312386

MMACHC

rs201312386 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MMACHC. Location: chromosome 1, position 45,974,510. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MMACHCConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:45974510
Cytoband
1p34.1
HGVS
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu)
Allele change
Missense_F101L

Associated conditions / phenotypes

Cobalamin C disease|Disorders of Intracellular Cobalamin Metabolism|See cases

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.